Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
Publication
, Journal Article
Bouldin, AA; Parisi, MA; Laing, N; Patterson, K; Gospe, SM
Published in: Muscle Nerve
February 2007
Nemaline myopathy is a rare disorder of varying severity and genetic etiology. We present two cases, a father and son, with a novel missense mutation in the alpha actin gene. Both have a history of early motor impairment, with the son's course being considerably more severe. This pair illustrates the clinical variability of nemaline myopathy, highlighting the possible influence of environmental and epigenetic factors. Implications for the current classification system and prognosis are discussed.
Duke Scholars
Published In
Muscle Nerve
DOI
ISSN
0148-639X
Publication Date
February 2007
Volume
35
Issue
2
Start / End Page
254 / 258
Location
United States
Related Subject Headings
- Staining and Labeling
- Phenylalanine
- Neurology & Neurosurgery
- Myopathies, Nemaline
- Mutation
- Muscle Fibers, Skeletal
- Male
- Infant
- Humans
- Family Health
Citation
APA
Chicago
ICMJE
MLA
NLM
Bouldin, A. A., Parisi, M. A., Laing, N., Patterson, K., & Gospe, S. M. (2007). Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle Nerve, 35(2), 254–258. https://doi.org/10.1002/mus.20662
Bouldin, Anthony A., Melissa A. Parisi, Nigel Laing, Kathleen Patterson, and Sidney M. Gospe. “Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.” Muscle Nerve 35, no. 2 (February 2007): 254–58. https://doi.org/10.1002/mus.20662.
Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle Nerve. 2007 Feb;35(2):254–8.
Bouldin, Anthony A., et al. “Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.” Muscle Nerve, vol. 35, no. 2, Feb. 2007, pp. 254–58. Pubmed, doi:10.1002/mus.20662.
Bouldin AA, Parisi MA, Laing N, Patterson K, Gospe SM. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle Nerve. 2007 Feb;35(2):254–258.
Published In
Muscle Nerve
DOI
ISSN
0148-639X
Publication Date
February 2007
Volume
35
Issue
2
Start / End Page
254 / 258
Location
United States
Related Subject Headings
- Staining and Labeling
- Phenylalanine
- Neurology & Neurosurgery
- Myopathies, Nemaline
- Mutation
- Muscle Fibers, Skeletal
- Male
- Infant
- Humans
- Family Health